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Use of guidelines improves the neurological outcome in glutaric aciduria type I

✍ Scribed by Jana Heringer; S. P. Nikolas Boy; Regina Ensenauer; Birgit Assmann; Johannes Zschocke; Inga Harting; Thomas Lücke; Esther M. Maier; Chris Mühlhausen; Gisela Haege; Georg F. Hoffmann; Peter Burgard; Stefan Kölker

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
288 KB
Volume
68
Category
Article
ISSN
0364-5134

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Novel mutations of the glutaryl-CoA dehy
Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I
✍ lkeda, Hiroyuki; Kimura, Toshiyuki; Ikegami, Tohru; Kato, Mitsuhiro; Matsunaga, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

We identified three different point mutations in the glutaryl-CoA dehydrogenase (GCDH) gene in two unrelated Japanese patients with glutaric aciduria type I (GA-I). One patient was a homozygote for Arg355His and the other a compound heterozygote for Ser305Leu and Met339Val. Arg355His and Met339Val a